Mutagenetix > Incidental Mutation

Incidental Mutation 'R1958:Pask'

217986

Institutional Source

Beutler Lab

Gene Symbol

Pask

Ensembl Gene

ENSMUSG00000026274

Gene Name

PAS domain containing serine/threonine kinase

Synonyms

Paskin

MMRRC Submission

039972-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R1958 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93237159-93271244 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93249180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 740 (I740N)

Ref Sequence

ENSEMBL: ENSMUSP00000027493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027493]

AlphaFold

Q8CEE6

Predicted Effect

probably benign
Transcript: ENSMUST00000027493
AA Change: I740N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274
AA Change: I740N

Domain	Start	End	E-Value	Type
PAS	119	186	3.87e-8	SMART
PAS	333	400	3.08e-2	SMART
low complexity region	907	918	N/A	INTRINSIC
low complexity region	1043	1054	N/A	INTRINSIC
S_TKc	1059	1311	8.16e-79	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188069

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

97% (99/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous null mice display resistance to diet-induced obesity, impaired glucose stimulated insulin secretion, abnormal energy balance, and abnormalities in hypoxia induced changes in ventialtion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	T	4: 62,457,146 (GRCm39)	N155I	probably benign	Het
Abca14	A	G	7: 119,924,382 (GRCm39)	Y1678C	probably damaging	Het
Adamts19	A	T	18: 59,103,078 (GRCm39)	R706S	probably benign	Het
Adipor1	T	C	1: 134,350,771 (GRCm39)	S7P	probably benign	Het
Adss2	A	G	1: 177,597,544 (GRCm39)	I372T	probably damaging	Het
Arhgap15	T	A	2: 44,133,136 (GRCm39)	D347E	possibly damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Asb8	T	C	15: 98,034,097 (GRCm39)	T153A	possibly damaging	Het
Aspscr1	G	T	11: 120,580,034 (GRCm39)	G191V	probably null	Het
Atm	T	C	9: 53,382,718 (GRCm39)	H1957R	probably damaging	Het
Atp13a5	A	G	16: 29,133,419 (GRCm39)	Y411H	probably damaging	Het
Cadm1	T	G	9: 47,761,633 (GRCm39)	I411S	probably damaging	Het
Cdh23	T	A	10: 60,246,652 (GRCm39)	M927L	probably benign	Het
Cdk15	A	T	1: 59,383,475 (GRCm39)	R423W	probably damaging	Het
Cep250	T	A	2: 155,818,301 (GRCm39)		probably null	Het
Cfap43	T	A	19: 47,885,649 (GRCm39)	Y322F	probably benign	Het
Cfap54	T	C	10: 92,833,204 (GRCm39)	S1141G	probably benign	Het
Clnk	T	C	5: 38,863,969 (GRCm39)	Y428C	possibly damaging	Het
Cnksr1	A	G	4: 133,955,727 (GRCm39)	S668P	probably benign	Het
Cpxm2	A	T	7: 131,663,876 (GRCm39)	I349N	probably damaging	Het
Csmd3	A	G	15: 47,868,035 (GRCm39)		probably null	Het
Cstdc3	T	C	16: 36,132,927 (GRCm39)	L68P	possibly damaging	Het
Dnmt1	C	T	9: 20,838,442 (GRCm39)	R207H	probably benign	Het
Dph2	A	T	4: 117,749,041 (GRCm39)	F5I	probably damaging	Het
Dst	T	A	1: 34,202,802 (GRCm39)	F325L	probably damaging	Het
Edem3	T	C	1: 151,680,076 (GRCm39)	L474S	probably damaging	Het
Emilin1	T	A	5: 31,075,160 (GRCm39)	L467Q	probably benign	Het
Fam170a	G	A	18: 50,415,181 (GRCm39)	E276K	probably benign	Het
Farp1	A	T	14: 121,456,787 (GRCm39)		probably null	Het
Fbrs	A	T	7: 127,085,163 (GRCm39)	T584S	possibly damaging	Het
Fbxo22	T	A	9: 55,116,626 (GRCm39)		probably null	Het
Fhod3	T	G	18: 25,223,522 (GRCm39)	L956R	probably damaging	Het
Fmo4	G	A	1: 162,631,259 (GRCm39)	T236I	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Gm11444	A	T	11: 85,738,999 (GRCm39)		probably benign	Het
Gm14443	T	C	2: 175,011,497 (GRCm39)	I316M	probably benign	Het
Has3	A	T	8: 107,605,435 (GRCm39)	Y547F	probably benign	Het
Hdhd2	A	G	18: 77,052,841 (GRCm39)	T164A	probably benign	Het
Hoxb9	T	A	11: 96,162,880 (GRCm39)	D171E	possibly damaging	Het
Hpx	A	G	7: 105,245,603 (GRCm39)	Y118H	probably damaging	Het
Iqsec1	T	C	6: 90,647,441 (GRCm39)	K858E	probably damaging	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Lama2	C	A	10: 26,857,594 (GRCm39)	R3085L	probably damaging	Het
Lyst	C	A	13: 13,791,203 (GRCm39)	A22E	probably damaging	Het
Man2a1	T	C	17: 65,057,830 (GRCm39)	F1079L	probably benign	Het
Marco	C	T	1: 120,412,593 (GRCm39)	G303R	probably damaging	Het
Marveld2	A	C	13: 100,733,858 (GRCm39)	I536R	probably damaging	Het
Mcm5	A	G	8: 75,848,257 (GRCm39)	D502G	probably benign	Het
Mdga1	A	T	17: 30,059,862 (GRCm39)	L653Q	probably damaging	Het
Mical2	A	G	7: 111,980,311 (GRCm39)	D161G	probably benign	Het
Mroh2a	C	T	1: 88,165,213 (GRCm39)	R445*	probably null	Het
Mrpl46	A	T	7: 78,431,146 (GRCm39)		probably null	Het
Nckipsd	C	A	9: 108,691,863 (GRCm39)		probably null	Het
Nek11	T	C	9: 105,170,916 (GRCm39)	D373G	probably benign	Het
Nle1	G	A	11: 82,795,068 (GRCm39)	S321F	probably benign	Het
Noxa1	A	G	2: 24,980,620 (GRCm39)	S130P	probably damaging	Het
Or10a5	A	G	7: 106,635,478 (GRCm39)	T39A	possibly damaging	Het
Or51v14	T	A	7: 103,260,618 (GRCm39)	*314L	probably null	Het
Or5l13	A	T	2: 87,779,809 (GRCm39)	L256H	probably damaging	Het
Or8b39	T	A	9: 37,996,419 (GRCm39)	C96S	probably damaging	Het
Parp3	T	G	9: 106,352,021 (GRCm39)		probably null	Het
Pelp1	A	G	11: 70,289,347 (GRCm39)	F221S	probably damaging	Het
Pkd1l1	T	G	11: 8,824,161 (GRCm39)	K1135Q	probably benign	Het
Plcl2	A	T	17: 50,915,109 (GRCm39)	Q706L	probably damaging	Het
Psg26	T	C	7: 18,212,264 (GRCm39)	T364A	probably benign	Het
Ptprb	C	T	10: 116,177,441 (GRCm39)	T1047M	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab37	C	T	11: 115,051,177 (GRCm39)	A155V	probably damaging	Het
Rbbp6	A	C	7: 122,601,168 (GRCm39)		probably benign	Het
Rbmxl2	A	G	7: 106,809,405 (GRCm39)	D230G	probably benign	Het
Rsf1	CGGCGGCGGCGGCGGCGGCGGCGGCGGC	CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,115 (GRCm39)		probably benign	Het
Sass6	G	T	3: 116,403,945 (GRCm39)	K194N	possibly damaging	Het
Sgpp1	T	G	12: 75,782,222 (GRCm39)	D39A	probably benign	Het
Shank3	T	C	15: 89,387,351 (GRCm39)	V198A	probably damaging	Het
Sin3a	T	A	9: 57,012,893 (GRCm39)	S591T	probably damaging	Het
Slc12a6	C	T	2: 112,185,503 (GRCm39)	T924I	possibly damaging	Het
Sln	T	A	9: 53,760,785 (GRCm39)	I10N	probably benign	Het
St3gal3	A	T	4: 117,797,268 (GRCm39)	M309K	probably damaging	Het
Syne2	T	A	12: 76,016,319 (GRCm39)	D3301E	probably benign	Het
Tgtp2	A	G	11: 48,949,919 (GRCm39)	S218P	probably damaging	Het
Tha1	C	T	11: 117,760,179 (GRCm39)		probably benign	Het
Tmem102	A	G	11: 69,695,225 (GRCm39)	V249A	probably benign	Het
Top3b	G	A	16: 16,702,166 (GRCm39)	E268K	possibly damaging	Het
Trip4	T	C	9: 65,746,307 (GRCm39)	S530G	possibly damaging	Het
Tut1	T	A	19: 8,936,677 (GRCm39)	V167E	probably damaging	Het
Tut4	A	T	4: 108,412,903 (GRCm39)	S1535C	probably damaging	Het
Ube2u	A	T	4: 100,338,833 (GRCm39)	M33L	probably benign	Het
Unc79	T	C	12: 102,957,621 (GRCm39)	I12T	probably damaging	Het
Unc79	A	T	12: 103,041,178 (GRCm39)	D737V	probably benign	Het
Vmn1r26	A	G	6: 57,985,286 (GRCm39)	V301A	probably benign	Het
Vmn1r86	A	G	7: 12,836,621 (GRCm39)	V35A	possibly damaging	Het
Vmn2r98	A	C	17: 19,286,680 (GRCm39)	N393H	possibly damaging	Het
Vps13b	T	G	15: 35,878,835 (GRCm39)	S2945A	probably damaging	Het
Whrn	C	T	4: 63,353,666 (GRCm39)	R367H	possibly damaging	Het
Zfp235	A	T	7: 23,839,771 (GRCm39)	L133F	probably damaging	Het
Zfp74	T	C	7: 29,635,136 (GRCm39)	T191A	probably benign	Het
Zfp943	A	T	17: 22,211,979 (GRCm39)	K355I	probably damaging	Het
Zranb1	T	G	7: 132,584,458 (GRCm39)	S601R	probably damaging	Het
Zscan29	A	T	2: 121,000,289 (GRCm39)		probably null	Het

Other mutations in Pask

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01366:Pask	APN	1	93,238,574 (GRCm39)	missense	probably benign	0.02
IGL01620:Pask	APN	1	93,237,844 (GRCm39)	missense	possibly damaging	0.87
IGL01959:Pask	APN	1	93,262,329 (GRCm39)	missense	probably benign	0.03
IGL02170:Pask	APN	1	93,238,606 (GRCm39)	missense	possibly damaging	0.69
IGL02499:Pask	APN	1	93,248,817 (GRCm39)	nonsense	probably null
IGL02670:Pask	APN	1	93,238,540 (GRCm39)	missense	probably damaging	1.00
IGL03066:Pask	APN	1	93,258,588 (GRCm39)	missense	probably benign	0.02
IGL03210:Pask	APN	1	93,247,714 (GRCm39)	missense	possibly damaging	0.92
R0472:Pask	UTSW	1	93,248,639 (GRCm39)	missense	probably benign	0.00
R0524:Pask	UTSW	1	93,238,556 (GRCm39)	missense	probably damaging	1.00
R0854:Pask	UTSW	1	93,255,156 (GRCm39)	missense	possibly damaging	0.79
R0854:Pask	UTSW	1	93,255,122 (GRCm39)	missense	probably damaging	0.99
R0854:Pask	UTSW	1	93,255,134 (GRCm39)	missense	probably damaging	1.00
R0863:Pask	UTSW	1	93,242,061 (GRCm39)	missense	probably damaging	1.00
R1052:Pask	UTSW	1	93,258,549 (GRCm39)	missense	probably benign	0.00
R1406:Pask	UTSW	1	93,249,373 (GRCm39)	missense	probably benign	0.00
R1406:Pask	UTSW	1	93,249,373 (GRCm39)	missense	probably benign	0.00
R1831:Pask	UTSW	1	93,248,491 (GRCm39)	splice site	probably null
R2143:Pask	UTSW	1	93,249,019 (GRCm39)	missense	probably benign	0.00
R2144:Pask	UTSW	1	93,249,019 (GRCm39)	missense	probably benign	0.00
R2145:Pask	UTSW	1	93,249,019 (GRCm39)	missense	probably benign	0.00
R2509:Pask	UTSW	1	93,258,485 (GRCm39)	missense	possibly damaging	0.62
R2858:Pask	UTSW	1	93,249,373 (GRCm39)	missense	probably benign	0.00
R2899:Pask	UTSW	1	93,262,269 (GRCm39)	missense	probably damaging	1.00
R3545:Pask	UTSW	1	93,244,837 (GRCm39)	missense	probably damaging	1.00
R3778:Pask	UTSW	1	93,255,189 (GRCm39)	missense	probably damaging	1.00
R4111:Pask	UTSW	1	93,238,540 (GRCm39)	missense	probably damaging	1.00
R4514:Pask	UTSW	1	93,249,855 (GRCm39)	missense	probably benign	0.03
R4527:Pask	UTSW	1	93,248,224 (GRCm39)	missense	probably benign
R4580:Pask	UTSW	1	93,249,830 (GRCm39)	missense	probably benign	0.36
R4718:Pask	UTSW	1	93,249,918 (GRCm39)	missense	possibly damaging	0.67
R4775:Pask	UTSW	1	93,265,246 (GRCm39)	missense	probably damaging	0.97
R5036:Pask	UTSW	1	93,249,801 (GRCm39)	nonsense	probably null
R5070:Pask	UTSW	1	93,258,596 (GRCm39)	missense	probably damaging	1.00
R5084:Pask	UTSW	1	93,249,819 (GRCm39)	missense	probably benign
R5151:Pask	UTSW	1	93,262,350 (GRCm39)	missense	probably damaging	1.00
R5196:Pask	UTSW	1	93,237,805 (GRCm39)	unclassified	probably benign
R5643:Pask	UTSW	1	93,265,065 (GRCm39)	critical splice donor site	probably null
R5739:Pask	UTSW	1	93,249,778 (GRCm39)	missense	probably benign
R6126:Pask	UTSW	1	93,242,081 (GRCm39)	missense	probably damaging	1.00
R7161:Pask	UTSW	1	93,238,627 (GRCm39)	missense	probably benign
R7284:Pask	UTSW	1	93,248,391 (GRCm39)	missense	probably benign	0.01
R7289:Pask	UTSW	1	93,259,309 (GRCm39)	missense	probably damaging	1.00
R8277:Pask	UTSW	1	93,253,085 (GRCm39)	critical splice donor site	probably null
R8303:Pask	UTSW	1	93,248,286 (GRCm39)	missense	probably benign	0.10
R8309:Pask	UTSW	1	93,240,573 (GRCm39)	nonsense	probably null
R8321:Pask	UTSW	1	93,248,377 (GRCm39)	missense	possibly damaging	0.85
R8476:Pask	UTSW	1	93,249,361 (GRCm39)	missense	probably benign	0.00
R8814:Pask	UTSW	1	93,248,307 (GRCm39)	missense	probably benign	0.00
R9061:Pask	UTSW	1	93,253,191 (GRCm39)	nonsense	probably null
R9198:Pask	UTSW	1	93,265,205 (GRCm39)	missense	possibly damaging	0.72
R9406:Pask	UTSW	1	93,251,987 (GRCm39)	missense	probably benign	0.02
R9578:Pask	UTSW	1	93,263,390 (GRCm39)	missense	probably benign	0.00
Z1088:Pask	UTSW	1	93,244,523 (GRCm39)	missense	probably damaging	1.00
Z1177:Pask	UTSW	1	93,263,454 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAATTCACATCAGCCTCCTG -3'
(R):5'- GAGCCTTACATATTGCCCACAG -3'

Sequencing Primer
(F):5'- GAGCTTCCACTGCCTCCAG -3'
(R):5'- TATTGCCCACAGTACAGAAGCGAG -3'

Posted On

2014-08-01